Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient

• Autorzy: Smigiel R , Szafranska A , Czyzewska M , Rauch A , Zweier C , Patkowski D
• Języki publikacji: EN

Abstrakty

EN

We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1).

Słowa kluczowe

PL

Hirschsprung disease; Mowat-Wilson syndrome; ZEB gene; ZFHX1B gene; genotype-phenotype correlation; patient; anomaly; molecular analysis; child; phenotype

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2010
• Tom: 51
• Numer: 1
• Opis fizyczny: p.111-113,fig.,ref.

Twórcy

autor

Smigiel R

• Genetics Department, Wroclaw Medical University, Marcinkowskiego 1, 50-368 Wroclaw, Poland

autor

Szafranska A

• Neonatology Department, Wrocław Medical University, Poland

autor

Czyzewska M

• Neonatology Department, Wrocław Medical University, Poland

autor

Rauch A

• Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany

autor

Zweier C

• Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany

autor

Patkowski D

• Paediatric Surgery Department, Wrocław Medical University, Poland

Bibliografia

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